R153L (p.Arg153Leu) variant of SLC2A1 (P11166)
R153L (p.Arg153Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy due to GLUT1 deficiency; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R153L (p.Arg153Leu) variant details
- p.Arg153Leu
- rs794727642
- ClinGen CA318491
- ClinVar RCV000189394
- ClinVar RCV001253255
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; Intellectu)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)